Canonical Allele Identifier: CA153849582
Gene: GLCCI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs530087138
gnomAD v3: 7-7968292-A-G
gnomAD v4: 7-7968292-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7968292A>G , CM000669.2:g.7968292A>G GRCh38
NC_000007.13:g.8007923A>G , CM000669.1:g.8007923A>G GRCh37
NC_000007.12:g.7974448A>G NCBI36
NG_032073.1:g.4550A>G

Transcript Alleles

HGVS Amino-acid Change
NR_110018.1:n.209+252T>C